Results 211 to 220 of about 82,731 (339)

Denial of Inpatient Genetic Testing: A Study on Outpatient Yield and Outcomes

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic conditions suspected in children often require genetic testing for accurate diagnoses, but testing remains costly. Case management teams review genetic test requests to improve access for patients while reducing the financial burden for medical institutions.
Cindy Y. Canales   +6 more
wiley   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen   +13 more
wiley   +1 more source

‘Keeping Ourselves Safe From the System’: Perinatal Care Model Considerations for Aboriginal and Torres Strait Islander Families Intersecting With Child Protection

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT It is the priority of Aboriginal and Torres Strait Islander communities, and Australian governments, to provide infants with enriching environments in which they may thrive. This is particularly critical during the perinatal period. Yet, an increasing number of notifications and interventions by child protection authorities are occurring in ...
Neve Mucabel‐Bue   +11 more
wiley   +1 more source

First comprehensive catalogue of hibernating Darwin wasps in the Western Palaearctic (Hymenoptera, Ichneumonidae). [PDF]

open access: yesBiodivers Data J
Verheyde F   +14 more
europepmc   +1 more source

Disease Progression in Multiple System Atrophy: The ASPIRE Multi‐Modal Biomarker Study

open access: yesAnnals of Neurology, EarlyView.
Objective The objective of this study was to characterize changes in candidate biomarkers in early multiple system atrophy (MSA) and identify baseline predictors of faster progression. Methods This 1‐year, multicenter, prospective study assessed clinical, neuroimaging (3T‐magnetic resonance imaging [MRI], dopamine transporter single‐photon emission ...
Margherita Fabbri   +26 more
wiley   +1 more source

Cortical asymmetry in autosomal dominant Alzheimer's disease progression. [PDF]

open access: yesBrain Commun
Pérez-Millan A   +28 more
europepmc   +1 more source

Late Pregnancy Antiseizure Medication Exposure and Offspring Neurodevelopmental Risk: A Multi‐Child Cohort Study

open access: yesAnnals of Neurology, EarlyView.
Objective Antiseizure medication (ASM) use during pregnancy has increased over the past decade. However, evidence linking prenatal ASM exposure to neurodevelopmental disorders (NDDs) in offspring remains inconsistent. This study evaluated whether prenatal ASM exposure increases the risk of NDDs in children.
Odile Sheehy   +13 more
wiley   +1 more source

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